Bilateral trigeminal neurofibromas-keep an eye out

Authors

  • Sriram Jaganathan Department of Radiodiagnosis, Global Hospitals, Chennai, Tamil Nadu, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20222625

Keywords:

Neurofibroma, Trigeminal, NIH

Abstract

Neurofibromatosis type 1 (NF1) and type 2 (NF2) are inherited phakomatoses which occur due to mutations in tumor suppressor genes NF1 and NF2, and present with protean manifestations. One of the important manifestations of these neurocutaneous conditions is multiple benign and malignant nerve sheath tumors which can occur anywhere in the body. Multidisciplinary team involvement and timely imaging plays a vital role to precisely identify the culprit tumors and treat promptly.  Our patient is a 35 years-old female presented with proptosis, bilateral upper limb and lower limb weakness. MRI performed on an urgent basis showed multiple neurogenic tumors involving trigeminal nerves bilaterally and multiple peripheral nerves. Later, the patient was diagnosed as NF1 based on national institute of health (NIH) clinical diagnostic criteria. Bilateral plexiform trigeminal neurofibromas, as seen in our patient, are uncommon tumors of NF1 and are not described in the imaging literature. The tumors on both the sides were seen extending along the branches of the trigeminal nerve including maxillary and mandibular branches expanding the pterygo-maxillary fissure and foramen ovale respectively. Radiologist plays an important role in recognizing these tumors and also delineating the extent of the tumors helping in the patient management. In view of multiple tumors with extensive involvement and patient preference, our patient was managed conservatively and appropriate monitoring strategy was planned by the multidisciplinary team to follow up.    

References

Wang MX, Dillman JR, Guccione J. Neurofibromatosis from Head to Toe: What Radiologist Needs to Know. Radiographics. 2022;42(4).

National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda. Md USA 1987. Neurofibromatosis. 1988;1:172-8.

Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet. 2016;5(2):98-104.

Bekiesinska-Figatowska M. A mini review on Neurofibromatosis type 1 from the radiological point of view. J Rare Dis Res Treat. 2017;2(6);45-9.

Tchernev G, Chokoeva AA, Patterson JW, Bakardzhiev I, Wollina U, Tana C. Plexiform Neurofibroma: A Case Report. Medicine (Baltimore). 2016;95(6):e2663.

Mautner VF, Hartmann M, Kluwe L. MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology. 2006;48:160-5.

Zulfiqar M, Lin M, Ratkowski K, Gagnon MH, Menias C, Siegel CL. Imaging Features of Neurofibromatosis Type 1 in the Abdomen and Pelvis. AJR Am J Roentgenol. 2021;216(1):241-51.

Patel NB, Stacy GS. Musculoskeletal manifestations of neurofibromatosis type 1. AJR Am J Roentgenol. 2012;199(1):W99-106.

Ahlawat S, Blakeley JO, Langmead S, Belzberg AJ, Fayad LM. Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Skeletal Radiol. 2020;49(2):199-219.

Meersschaut VA, Kros JM, Catsman-Berrevoets CE, Lequin MH. Congenital bilateral plexiform neurofibromas of the cavernous sinuses. Pediatric Radiol. 2003;33;272-4.

Li P, Yang Z, Wang Z, Liu P. Bilateral Cranio-Orbital Neurofibromas in a 16-year-old child with neurofibromatosis 1. Neurol India. 2016; 64: 835-6.

Khan SN, Sepahdari AR. Orbital masses: CT and MRI of common vascular lesions, benign tumors, and malignancies. Saudi J Ophthalmol. 2012;26(4):373-83.

Park SJ, Sawitzki B, Kluwe L. Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors. BMC Med. 2013;11:109

Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44(2):81-8.

Mukhopadhyay S, Maitra A, Choudhury S. Selumetinib: the first ever approved drug for neurofibromatosis-1 related inoperable plexiform neurofibroma. Curr Med Res Opin. 2021;37(5):789-94.

Downloads

Published

2022-10-28

How to Cite

Jaganathan, S. (2022). Bilateral trigeminal neurofibromas-keep an eye out. International Journal of Research in Medical Sciences, 10(11), 2647–2650. https://doi.org/10.18203/2320-6012.ijrms20222625

Issue

Section

Case Reports